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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1517342

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:168159163 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.491197 (130015/264690, TOPMED)
T=0.498153 (83876/168374, ALFA)
C=0.496370 (69468/139952, GnomAD) (+ 17 more)
T=0.38019 (6372/16760, 8.3KJPN)
T=0.4908 (2458/5008, 1000G)
T=0.4846 (2171/4480, Estonian)
T=0.4933 (1901/3854, ALSPAC)
C=0.4978 (1846/3708, TWINSUK)
T=0.3730 (1093/2930, KOREAN)
C=0.4928 (1026/2082, HGDP_Stanford)
T=0.4883 (919/1882, HapMap)
T=0.3690 (676/1832, Korea1K)
T=0.481 (480/998, GoNL)
C=0.495 (297/600, NorthernSweden)
T=0.331 (139/420, SGDP_PRJ)
T=0.495 (107/216, Qatari)
T=0.338 (73/216, Vietnamese)
T=0.45 (18/40, GENOME_DK)
T=0.35 (14/40, Siberian)
T=0.47 (14/30, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
STK39 : Intron Variant
Publications
3 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 2 NC_000002.12:g.168159163T>C
GRCh37.p13 chr 2 NC_000002.11:g.169015673T>C
STK39 RefSeqGene NG_052783.1:g.93433A>G
Gene: STK39, serine/threonine kinase 39 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
STK39 transcript NM_013233.3:c.628+2624A>G N/A Intron Variant
STK39 transcript variant X2 XM_005246465.2:c.628+2624…

XM_005246465.2:c.628+2624A>G

N/A Intron Variant
STK39 transcript variant X1 XM_017003813.2:c.628+2624…

XM_017003813.2:c.628+2624A>G

N/A Intron Variant
STK39 transcript variant X3 XM_017003814.2:c.628+2624…

XM_017003814.2:c.628+2624A>G

N/A Intron Variant
STK39 transcript variant X4 XM_017003815.2:c.322+2624…

XM_017003815.2:c.322+2624A>G

N/A Intron Variant
STK39 transcript variant X5 XM_017003816.2:c.628+2624…

XM_017003816.2:c.628+2624A>G

N/A Intron Variant
STK39 transcript variant X6 XM_017003817.2:c.136+2624…

XM_017003817.2:c.136+2624A>G

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 168374 T=0.498153 C=0.501847
European Sub 150840 T=0.494312 C=0.505688
African Sub 5098 T=0.5249 C=0.4751
African Others Sub 198 T=0.510 C=0.490
African American Sub 4900 T=0.5255 C=0.4745
Asian Sub 370 T=0.392 C=0.608
East Asian Sub 264 T=0.386 C=0.614
Other Asian Sub 106 T=0.406 C=0.594
Latin American 1 Sub 416 T=0.498 C=0.502
Latin American 2 Sub 2598 T=0.5316 C=0.4684
South Asian Sub 4978 T=0.5733 C=0.4267
Other Sub 4074 T=0.5034 C=0.4966


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.508803 C=0.491197
Allele Frequency Aggregator Total Global 168374 T=0.498153 C=0.501847
Allele Frequency Aggregator European Sub 150840 T=0.494312 C=0.505688
Allele Frequency Aggregator African Sub 5098 T=0.5249 C=0.4751
Allele Frequency Aggregator South Asian Sub 4978 T=0.5733 C=0.4267
Allele Frequency Aggregator Other Sub 4074 T=0.5034 C=0.4966
Allele Frequency Aggregator Latin American 2 Sub 2598 T=0.5316 C=0.4684
Allele Frequency Aggregator Latin American 1 Sub 416 T=0.498 C=0.502
Allele Frequency Aggregator Asian Sub 370 T=0.392 C=0.608
gnomAD - Genomes Global Study-wide 139952 T=0.503630 C=0.496370
gnomAD - Genomes European Sub 75828 T=0.48751 C=0.51249
gnomAD - Genomes African Sub 41890 T=0.52624 C=0.47376
gnomAD - Genomes American Sub 13640 T=0.54560 C=0.45440
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.5418 C=0.4582
gnomAD - Genomes East Asian Sub 3124 T=0.3668 C=0.6332
gnomAD - Genomes Other Sub 2148 T=0.5051 C=0.4949
8.3KJPN JAPANESE Study-wide 16760 T=0.38019 C=0.61981
1000Genomes Global Study-wide 5008 T=0.4908 C=0.5092
1000Genomes African Sub 1322 T=0.5378 C=0.4622
1000Genomes East Asian Sub 1008 T=0.3403 C=0.6597
1000Genomes Europe Sub 1006 T=0.4901 C=0.5099
1000Genomes South Asian Sub 978 T=0.548 C=0.452
1000Genomes American Sub 694 T=0.540 C=0.460
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4846 C=0.5154
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4933 C=0.5067
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5022 C=0.4978
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3730 C=0.6270
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.5072 C=0.4928
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.434 C=0.566
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.585 C=0.415
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.471 C=0.529
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.562 C=0.438
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.405 C=0.595
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.634 C=0.366
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.43 C=0.57
HapMap Global Study-wide 1882 T=0.4883 C=0.5117
HapMap American Sub 766 T=0.470 C=0.530
HapMap African Sub 690 T=0.571 C=0.429
HapMap Asian Sub 252 T=0.353 C=0.647
HapMap Europe Sub 174 T=0.437 C=0.563
Korean Genome Project KOREAN Study-wide 1832 T=0.3690 C=0.6310
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.481 C=0.519
Northern Sweden ACPOP Study-wide 600 T=0.505 C=0.495
SGDP_PRJ Global Study-wide 420 T=0.331 C=0.669
Qatari Global Study-wide 216 T=0.495 C=0.505
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.338 C=0.662
The Danish reference pan genome Danish Study-wide 40 T=0.45 C=0.55
Siberian Global Study-wide 40 T=0.35 C=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 30 T=0.47 C=0.53
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C
GRCh38.p13 chr 2 NC_000002.12:g.168159163= NC_000002.12:g.168159163T>C
GRCh37.p13 chr 2 NC_000002.11:g.169015673= NC_000002.11:g.169015673T>C
STK39 RefSeqGene NG_052783.1:g.93433= NG_052783.1:g.93433A>G
STK39 transcript NM_013233.2:c.628+2624= NM_013233.2:c.628+2624A>G
STK39 transcript NM_013233.3:c.628+2624= NM_013233.3:c.628+2624A>G
STK39 transcript variant X1 XM_005246465.1:c.628+2624= XM_005246465.1:c.628+2624A>G
STK39 transcript variant X2 XM_005246465.2:c.628+2624= XM_005246465.2:c.628+2624A>G
STK39 transcript variant X2 XM_005246466.1:c.136+2624= XM_005246466.1:c.136+2624A>G
STK39 transcript variant X1 XM_017003813.2:c.628+2624= XM_017003813.2:c.628+2624A>G
STK39 transcript variant X3 XM_017003814.2:c.628+2624= XM_017003814.2:c.628+2624A>G
STK39 transcript variant X4 XM_017003815.2:c.322+2624= XM_017003815.2:c.322+2624A>G
STK39 transcript variant X5 XM_017003816.2:c.628+2624= XM_017003816.2:c.628+2624A>G
STK39 transcript variant X6 XM_017003817.2:c.136+2624= XM_017003817.2:c.136+2624A>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

111 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2353814 Oct 23, 2000 (88)
2 YUSUKE ss4940809 Aug 28, 2002 (108)
3 PERLEGEN ss23250741 Sep 20, 2004 (123)
4 ILLUMINA ss65716015 Oct 16, 2006 (127)
5 ILLUMINA ss66801093 Dec 02, 2006 (127)
6 ILLUMINA ss67122924 Dec 02, 2006 (127)
7 ILLUMINA ss67461492 Dec 02, 2006 (127)
8 ILLUMINA ss70439494 May 18, 2007 (127)
9 ILLUMINA ss70627361 May 24, 2008 (130)
10 ILLUMINA ss71176929 May 18, 2007 (127)
11 ILLUMINA ss75853400 Dec 06, 2007 (129)
12 HGSV ss79936488 Dec 14, 2007 (130)
13 KRIBB_YJKIM ss83812110 Dec 14, 2007 (130)
14 BCMHGSC_JDW ss91431395 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss97097612 Feb 04, 2009 (130)
16 BGI ss103625303 Dec 01, 2009 (131)
17 1000GENOMES ss110224998 Jan 24, 2009 (130)
18 1000GENOMES ss111237175 Jan 25, 2009 (130)
19 ILLUMINA-UK ss117961635 Feb 14, 2009 (130)
20 ILLUMINA ss120244551 Dec 01, 2009 (131)
21 ILLUMINA ss121732463 Dec 01, 2009 (131)
22 ENSEMBL ss138573204 Dec 01, 2009 (131)
23 ENSEMBL ss142688685 Dec 01, 2009 (131)
24 ILLUMINA ss153485938 Dec 01, 2009 (131)
25 GMI ss157957280 Dec 01, 2009 (131)
26 ILLUMINA ss159279454 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss164782565 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss165577922 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss167393417 Jul 04, 2010 (132)
30 ILLUMINA ss170598220 Jul 04, 2010 (132)
31 ILLUMINA ss172553695 Jul 04, 2010 (132)
32 BUSHMAN ss201342861 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss205616600 Jul 04, 2010 (132)
34 1000GENOMES ss219641821 Jul 14, 2010 (132)
35 1000GENOMES ss231459295 Jul 14, 2010 (132)
36 1000GENOMES ss238949757 Jul 15, 2010 (132)
37 ILLUMINA ss244255985 Jul 04, 2010 (132)
38 BL ss253660179 May 09, 2011 (134)
39 GMI ss276777684 May 04, 2012 (137)
40 GMI ss284481289 Apr 25, 2013 (138)
41 PJP ss292420432 May 09, 2011 (134)
42 ILLUMINA ss480011891 May 04, 2012 (137)
43 ILLUMINA ss480020636 May 04, 2012 (137)
44 ILLUMINA ss484804075 May 04, 2012 (137)
45 ILLUMINA ss536885955 Sep 08, 2015 (146)
46 TISHKOFF ss556021641 Apr 25, 2013 (138)
47 SSMP ss649672869 Apr 25, 2013 (138)
48 ILLUMINA ss778436321 Aug 21, 2014 (142)
49 ILLUMINA ss782848642 Aug 21, 2014 (142)
50 ILLUMINA ss783813224 Aug 21, 2014 (142)
51 ILLUMINA ss825408478 Apr 01, 2015 (144)
52 ILLUMINA ss832102483 Apr 01, 2015 (144)
53 ILLUMINA ss832791599 Aug 21, 2014 (142)
54 ILLUMINA ss833382429 Aug 21, 2014 (142)
55 ILLUMINA ss833891826 Aug 21, 2014 (142)
56 EVA-GONL ss977619636 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1069687249 Aug 21, 2014 (142)
58 1000GENOMES ss1300336984 Aug 21, 2014 (142)
59 DDI ss1428813574 Apr 01, 2015 (144)
60 EVA_GENOME_DK ss1579188272 Apr 01, 2015 (144)
61 EVA_DECODE ss1587057000 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1605098338 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1648092371 Apr 01, 2015 (144)
64 EVA_SVP ss1712507572 Apr 01, 2015 (144)
65 ILLUMINA ss1752322168 Sep 08, 2015 (146)
66 HAMMER_LAB ss1797879687 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1920871847 Feb 12, 2016 (147)
68 GENOMED ss1968947257 Jul 19, 2016 (147)
69 JJLAB ss2020969680 Sep 14, 2016 (149)
70 USC_VALOUEV ss2149034471 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2236390529 Dec 20, 2016 (150)
72 TOPMED ss2402802623 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2624988854 Nov 08, 2017 (151)
74 ILLUMINA ss2633701737 Nov 08, 2017 (151)
75 GRF ss2703671517 Nov 08, 2017 (151)
76 GNOMAD ss2782559757 Nov 08, 2017 (151)
77 SWEGEN ss2990826930 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3024245241 Nov 08, 2017 (151)
79 TOPMED ss3329674798 Nov 08, 2017 (151)
80 CSHL ss3344594439 Nov 08, 2017 (151)
81 ILLUMINA ss3628216273 Oct 11, 2018 (152)
82 ILLUMINA ss3631663487 Oct 11, 2018 (152)
83 ILLUMINA ss3633224058 Oct 11, 2018 (152)
84 ILLUMINA ss3633936831 Oct 11, 2018 (152)
85 ILLUMINA ss3634797391 Oct 11, 2018 (152)
86 ILLUMINA ss3635622501 Oct 11, 2018 (152)
87 ILLUMINA ss3637374485 Oct 11, 2018 (152)
88 ILLUMINA ss3638300547 Oct 11, 2018 (152)
89 ILLUMINA ss3639154297 Oct 11, 2018 (152)
90 ILLUMINA ss3639590074 Oct 11, 2018 (152)
91 ILLUMINA ss3640504690 Oct 11, 2018 (152)
92 ILLUMINA ss3643266606 Oct 11, 2018 (152)
93 URBANLAB ss3647200752 Oct 11, 2018 (152)
94 EGCUT_WGS ss3658696806 Jul 13, 2019 (153)
95 EVA_DECODE ss3705377571 Jul 13, 2019 (153)
96 ACPOP ss3729085512 Jul 13, 2019 (153)
97 ILLUMINA ss3745097239 Jul 13, 2019 (153)
98 EVA ss3757692222 Jul 13, 2019 (153)
99 ILLUMINA ss3772593836 Jul 13, 2019 (153)
100 KHV_HUMAN_GENOMES ss3802050829 Jul 13, 2019 (153)
101 EVA ss3827341602 Apr 25, 2020 (154)
102 EVA ss3837088521 Apr 25, 2020 (154)
103 EVA ss3842508301 Apr 25, 2020 (154)
104 HGDP ss3847640800 Apr 25, 2020 (154)
105 SGDP_PRJ ss3853926489 Apr 25, 2020 (154)
106 KRGDB ss3899554713 Apr 25, 2020 (154)
107 KOGIC ss3949454618 Apr 25, 2020 (154)
108 EVA ss3984935800 Apr 26, 2021 (155)
109 EVA ss4017032915 Apr 26, 2021 (155)
110 TOPMED ss4532959241 Apr 26, 2021 (155)
111 TOMMO_GENOMICS ss5155013557 Apr 26, 2021 (155)
112 1000Genomes NC_000002.11 - 169015673 Oct 11, 2018 (152)
113 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 169015673 Oct 11, 2018 (152)
114 Genetic variation in the Estonian population NC_000002.11 - 169015673 Oct 11, 2018 (152)
115 The Danish reference pan genome NC_000002.11 - 169015673 Apr 25, 2020 (154)
116 gnomAD - Genomes NC_000002.12 - 168159163 Apr 26, 2021 (155)
117 Genome of the Netherlands Release 5 NC_000002.11 - 169015673 Apr 25, 2020 (154)
118 HGDP-CEPH-db Supplement 1 NC_000002.10 - 168723919 Apr 25, 2020 (154)
119 HapMap NC_000002.12 - 168159163 Apr 25, 2020 (154)
120 KOREAN population from KRGDB NC_000002.11 - 169015673 Apr 25, 2020 (154)
121 Korean Genome Project NC_000002.12 - 168159163 Apr 25, 2020 (154)
122 Northern Sweden NC_000002.11 - 169015673 Jul 13, 2019 (153)
123 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 169015673 Apr 26, 2021 (155)
124 Qatari NC_000002.11 - 169015673 Apr 25, 2020 (154)
125 SGDP_PRJ NC_000002.11 - 169015673 Apr 25, 2020 (154)
126 Siberian NC_000002.11 - 169015673 Apr 25, 2020 (154)
127 8.3KJPN NC_000002.11 - 169015673 Apr 26, 2021 (155)
128 TopMed NC_000002.12 - 168159163 Apr 26, 2021 (155)
129 UK 10K study - Twins NC_000002.11 - 169015673 Oct 11, 2018 (152)
130 A Vietnamese Genetic Variation Database NC_000002.11 - 169015673 Jul 13, 2019 (153)
131 ALFA NC_000002.12 - 168159163 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3754778 Oct 09, 2002 (108)
rs58019164 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79936488, ss3639154297, ss3639590074 NC_000002.9:168841179:T:C NC_000002.12:168159162:T:C (self)
318692, ss91431395, ss110224998, ss111237175, ss117961635, ss164782565, ss165577922, ss167393417, ss201342861, ss205616600, ss253660179, ss276777684, ss284481289, ss292420432, ss480011891, ss825408478, ss1587057000, ss1712507572, ss3643266606, ss3847640800 NC_000002.10:168723918:T:C NC_000002.12:168159162:T:C (self)
11390869, 6284088, 4435054, 5353211, 2760656, 6732107, 2370377, 161727, 2913777, 5943469, 1550825, 12982864, 6284088, 1365474, ss219641821, ss231459295, ss238949757, ss480020636, ss484804075, ss536885955, ss556021641, ss649672869, ss778436321, ss782848642, ss783813224, ss832102483, ss832791599, ss833382429, ss833891826, ss977619636, ss1069687249, ss1300336984, ss1428813574, ss1579188272, ss1605098338, ss1648092371, ss1752322168, ss1797879687, ss1920871847, ss1968947257, ss2020969680, ss2149034471, ss2402802623, ss2624988854, ss2633701737, ss2703671517, ss2782559757, ss2990826930, ss3344594439, ss3628216273, ss3631663487, ss3633224058, ss3633936831, ss3634797391, ss3635622501, ss3637374485, ss3638300547, ss3640504690, ss3658696806, ss3729085512, ss3745097239, ss3757692222, ss3772593836, ss3827341602, ss3837088521, ss3853926489, ss3899554713, ss3984935800, ss4017032915, ss5155013557 NC_000002.11:169015672:T:C NC_000002.12:168159162:T:C (self)
81210040, 1944137, 5832619, 210160475, 336782120, 1698531311, ss2236390529, ss3024245241, ss3329674798, ss3647200752, ss3705377571, ss3802050829, ss3842508301, ss3949454618, ss4532959241 NC_000002.12:168159162:T:C NC_000002.12:168159162:T:C (self)
ss2353814, ss4940809, ss23250741, ss65716015, ss66801093, ss67122924, ss67461492, ss70439494, ss70627361, ss71176929, ss75853400, ss83812110, ss97097612, ss103625303, ss120244551, ss121732463, ss138573204, ss142688685, ss153485938, ss157957280, ss159279454, ss170598220, ss172553695, ss244255985 NT_005403.17:19225090:T:C NC_000002.12:168159162:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs1517342
PMID Title Author Year Journal
18348195 An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Ramoz N et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19001172 Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci. Lee JH et al. 2008 Archives of neurology
27066514 Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves. Wight JE et al. 2016 Molecular genetics & genomic medicine
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad